The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
CA384899215
1744752 (ClinVar)
Gene: ACVRL1
Condition: telangiectasia, hereditary hemorrhagic, type 2
Inheritance Mode: Autosomal dominant inheritance
UUID: 5fd3aaea-c7a8-42e8-a6e4-418a60b6240f
Approved on: 2024-03-15
Published on: 2024-03-15
HGVS expressions
NM_000020.3:c.500C>G
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
NC_000012.12:g.51913745C>G
CM000674.2:g.51913745C>G
NC_000012.11:g.52307529C>G
CM000674.1:g.52307529C>G
NC_000012.10:g.50593796C>G
NG_009549.1:g.11328C>G
ENST00000547400.6:c.355+395C>G
ENST00000551576.6:c.500C>G
ENST00000552678.2:c.500C>G
ENST00000388922.9:c.500C>G
ENST00000388922.8:c.500C>G
ENST00000419526.6:c.104-694C>G
ENST00000547400.5:c.355+395C>G
ENST00000550683.5:c.542C>G
NM_000020.2:c.500C>G
NM_001077401.1:c.500C>G
NM_001077401.2:c.500C>G
Evidence submitted by expert panel
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